Product Details

SNP ID

rs142778878

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:36070343 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCATCCGCGCCCTGCGCGACTT[A/C]CTGCGCAAGGAGTACGGGGGCCTGG

Phenotype

MIM: 114830

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CBR1 PubMed Links

Gene Details

Gene

CBR1

Gene Name

carbonyl reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286789.1	420	Silent Mutation	TTA,TTC	L76F	NP_001273718.1
NM_001757.3	420	Silent Mutation	TTA,TTC	L76F	NP_001748.1

Gene

LOC100133286

Gene Name

uncharacterized LOC100133286

There are no transcripts associated with this gene.

Gene

SETD4

Gene Name

SET domain containing 4

There are no transcripts associated with this gene.

View Full Product Details